<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02995538</url>
  </required_header>
  <id_info>
    <org_study_id>STUDY19090278</org_study_id>
    <nct_id>NCT02995538</nct_id>
  </id_info>
  <brief_title>Neurogenetics Patient Registry</brief_title>
  <official_title>Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Pittsburgh</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Pittsburgh</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The objective of this project is to develop a Neurogenetics patient database and bio&#xD;
      repository - which includes clinical information regarding history, physical examination,&#xD;
      laboratory testing including genetic testing (NextGen sequencing including whole exome and&#xD;
      whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies -&#xD;
      all ordered as clinically deemed appropriate, natural history from clinical longitudinal&#xD;
      follow-up and to use de-identified information from this registry/ repository, when&#xD;
      appropriate for clinical and translational research.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Patients seen in the neurogenetics clinic with a clinical phenotype or a pedigree supportive&#xD;
      of a genetic disease will be considered for the study. Autosomal recessive inheritance will&#xD;
      be suggested by at least two affected sibs with healthy parents who may also have other&#xD;
      unaffected children. Autosomal dominant inheritance will be suggested by multiple affected&#xD;
      family members in multiple generations. Lack of family history could be suggestive of&#xD;
      autosomal recessive inheritance or de novo autosomal dominant inheritance.&#xD;
&#xD;
      Informed consent will be completed prior to any research procedures or genetic testing.&#xD;
      Patients seen in the neurogenetics clinic will be approached about participating in the&#xD;
      Neurogenetics study during their routine clinic visit. Parents of pediatric patients seen in&#xD;
      the clinic will be asked to provide their written informed consent. Following informed&#xD;
      consent, deidentified patient information will be entered in a database by a study team&#xD;
      member. If participation in the biorepository is also approved, then available stored&#xD;
      specimens will be deidentified and located in the specific laboratories or in a collaborators&#xD;
      laboratory&#xD;
&#xD;
      In the case of a known Neurogenetics patient who has died, the Legally Authorized&#xD;
      Representative (or next of kin) of a deceased patient may be approached to provide permission&#xD;
      for research data and stored specimens to be included in this study. Again, their protected&#xD;
      health information (including any samples that were clinically obtained from biopsies or at&#xD;
      autopsy) will be secured and de-identified for their participation.&#xD;
&#xD;
      Immediate family members will be studied (affected individual, affected and unaffected&#xD;
      siblings and parents) with the goal of studying at least a family in trio (mother, father,&#xD;
      affected child). In some cases, the family may have a deceased individual with banked DNA&#xD;
      available. If the family is interested in including these samples, written consent will be&#xD;
      obtained from the decedent's next-of-kin or the executors of the decedent' estate.&#xD;
&#xD;
      Family history suggestive of genetic disease which is undiagnosed with the available&#xD;
      diagnosis methods will be considered for the study after having an extensive genetic&#xD;
      evaluation. Affected individuals beside their affected and unaffected siblings and both their&#xD;
      parents will be considered for the study.&#xD;
&#xD;
      The research subjects will be seen by a member of the study team to discuss the research&#xD;
      protocol and obtain informed consent. They will also be seen in the clinic once we have the&#xD;
      final results of the research study for genetic counseling and to discuss the results. If&#xD;
      needed they will be seen in the clinic for other clinical reasons that are not related to the&#xD;
      research.&#xD;
&#xD;
      Methodology:&#xD;
&#xD;
      For Goal 1: A neurogenetics clinic has been set up with 2 clinical child neurologists and a&#xD;
      genetic counselor, where undiagnosed patients with a potential neurogenetic disease will be&#xD;
      assessed and clinically appropriate testing will be ordered. Patients with diagnosed&#xD;
      neurogenetic disorders will also be followed for longitudinal care and reassessment as&#xD;
      appropriate.&#xD;
&#xD;
      For Goal 2: Informed consent will be obtained and pretesting genetic counseling will be&#xD;
      provided. Clinically appropriate testing will be ordered including blood draw, urine specimen&#xD;
      collection, buccal swab collection and if needed tissue biopsy samples. DNA sample from the&#xD;
      above testing that is left over after appropriate clinical testing will be used for storage&#xD;
      at the biorepository and for further appropriate research testing. Next generation&#xD;
      sequencing, if clinically appropriate will be ordered through available commercial labs as&#xD;
      approved by the patient's insurance company. If insurance coverage is denied research testing&#xD;
      will be ordered after informed consent and pretesting counseling, to be done through our&#xD;
      collaborative labs.&#xD;
&#xD;
      For Goal 3: A patient database with de-identified clinical information, laboratory analysis,&#xD;
      imaging studies and genetic studies will be maintained. A biorepository of blood and other&#xD;
      DNA/ tissue samples will be maintained in the appropriate clinical / collaborators&#xD;
      laboratory. The patient database will facilitate and identification and recruitment of&#xD;
      potential eligible subjects for the participation in patient specific translational research&#xD;
      studies to help better delineate the patients condition or to help with potential therapy&#xD;
      development in the future.&#xD;
&#xD;
      Collaborators have been identified in multiple different fields through the university of&#xD;
      Pittsburgh to help with offering research next generation testing, bioinformatics analysis,&#xD;
      basic science researchers to help with functional analysis of potential novel genes/ variants&#xD;
      of unknown significance. The vision of the initiative is to be able to take data from novel&#xD;
      new genetic testing on undiagnosed patients to the bench for functional characterization -&#xD;
      with the hope that this would pave the road to repurposing currently available drugs for&#xD;
      personalized care of these rare patients or help development of novel treatments in the&#xD;
      future.&#xD;
&#xD;
      Experimental Approach:&#xD;
&#xD;
      Blood draw will be ordered as clinically indicated with an extra tube been drawn for research&#xD;
      purposes: Up to 20 mL of whole blood will be collected in EDTA tubes. DNA will be extracted&#xD;
      per standard lab protocols. For deceased individuals we will be using banked source of DNA if&#xD;
      available. Next of kin will sign proxy consent for deceased individuals. Whole Exome&#xD;
      Sequencing (exome amplification and sequencing) and/or Whole Genome Sequencing will be done&#xD;
      according to lab protocol and will be sent out to a commercial laboratory or a laboratory in&#xD;
      consultation with one of our collaborators/consultants on this protocol. Research whole exome&#xD;
      through a collaborators laboratory will be offered to patients, whose insurance providers&#xD;
      will not cover for clinical testing.&#xD;
&#xD;
      The bioinformatics analysis provided by collaborators will be used to analyze the raw data&#xD;
      from NGS. Standard analysis will be used looking for variants in specific genes known to&#xD;
      cause genetic disorders. Any variants on whole exome or whole genome sequencing found will&#xD;
      then be compared to publicly available exomes/genomes from the dbSNP database, 1000 Genome&#xD;
      Project and NHLBI (http://evs.gs.washington.edu/EVS/) to exclude common variants and will be&#xD;
      compared to data available from ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) as well as&#xD;
      ExAC (ExAC.broadinstitute.org). Variants pathogenic prediction using available software such&#xD;
      as PolyPhen and SIFT will be used in the analysis as well. Comparing variants found in an&#xD;
      affected individual to those found in each parent further reduces the number of candidate&#xD;
      variants. For autosomal dominant disorders, this strategy can discover de novo coding&#xD;
      variants, assuming neither parent is a non-expressing carrier of the disorder. In contrast,&#xD;
      in recessive disorders each parent should carry one of the disease-causing variants&#xD;
      identified in the affected children. For X- linked disorders, the mother should be carrier&#xD;
      for the disease unless it has occurred de novo in the proband. Conservation score such as&#xD;
      GERP score (Genomic Evolutionary Rate Profiling) will be noted as well. Alteration of a&#xD;
      highly conserved residue is more likely to be functionally significant. Genes with multiple&#xD;
      transcripts will require special consideration. In this situation, effect estimation will be&#xD;
      limited to those from canonical transcripts, variants in candidate genes will then be&#xD;
      confirmed by Sanger sequencing in a CLIA certified lab.&#xD;
&#xD;
      Assessment of Physiologic Relevance: Based on published literature reports of similar&#xD;
      experiments, we anticipate that we will identify &lt;10 candidate genes and perhaps as few as&#xD;
      one. If more than one candidate gene is identified, we will assess likely physiologic&#xD;
      relevance a number of ways. First, amino acid changes will be assessed for conservation&#xD;
      across evolution. Alteration of a highly conserved residue is more likely to be functionally&#xD;
      significant. Next we will assess predicted tissue expression through examination of EST&#xD;
      databases and &quot;virtual northern blots&quot;. Amino acid changes predicted to significantly alter&#xD;
      protein structure will be assessed further by doing functional studies.&#xD;
&#xD;
      Time Frame and Subsequent Studies: The proposed sequencing studies can be completed&#xD;
      relatively expediently once sample is obtained. Additional time will be required for&#xD;
      bioinformatic analysis. Data obtained through this project will be used by the PI to prepare&#xD;
      grant applications to systematically characterize the underlying molecular defects in&#xD;
      patients with significant pedigree evidence of a genetic disorder, or in patients with&#xD;
      recognized genetic syndromes of unknown cause. Preliminary data obtained through this project&#xD;
      will also lead to additional grant applications to study the identified defect.&#xD;
&#xD;
      The blood draw will be done on the affected individuals, healthy parents and unaffected&#xD;
      siblings in the phlebotomy lab at Children's Hospital of UPMC or other UPMC facilities where&#xD;
      patients are seen by the lab personnel. The blood draw should take no more than 5-10 minutes.&#xD;
      Alternate arrangements may be made with individuals and their local phlebotomy lab to obtain&#xD;
      the specimens and ship them to the investigators.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">January 30, 2017</start_date>
  <completion_date type="Anticipated">January 2028</completion_date>
  <primary_completion_date type="Anticipated">January 2027</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <target_duration>100 Years</target_duration>
  <primary_outcome>
    <measure>Genetic testing</measure>
    <time_frame>Within approximately one year for each participant</time_frame>
    <description>Next generation sequencing, if clinically appropriate will be ordered through available commercial labs as approved by the patient's insurance company. If insurance coverage is denied research testing will be ordered after informed consent and pretesting counseling, to be done through our collaborative labs.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">1000</enrollment>
  <condition>Neurogenetic Disorders</condition>
  <arm_group>
    <arm_group_label>Neurogenetic Patients</arm_group_label>
    <description>The Neurogenetics Clinic, which started in 2016, provides clinical care for undiagnosed patients with complex neurological disorders in which a genetic etiology is considered and for children with diagnosed rare neurogenetic disorders - provide pre test counseling, diagnostic services for the undiagnosed patients and long-term management of patients with a wide range of diagnosed genetic disorders of the nervous system.</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood samples and tissue samples if available after completion of tests ordered on these&#xD;
      patients for clinical purposes will be de-identified and stored to create a biorepository.&#xD;
      DNA sample from genetic testing that is left over after appropriate clinical testing will be&#xD;
      used for storage at the biorepository and for further appropriate research testing.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Neurogenetics Patients&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients evaluated at the Neurogenetics clinic and suspected to have an underlying&#xD;
             neurogenetic disorder will be included.&#xD;
&#xD;
          -  Patients with known abnormal genetic testing with a neurological phenotype will be&#xD;
             included.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patient with acquired diagnosis, which can explain the patients clinical symptoms and&#xD;
             with a clinical phenotype or family history not suggestive of an underlying genetic&#xD;
             etiology.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Deepa Soundara Rajan, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of Pittsburgh</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Jennifer Baker, MA</last_name>
    <phone>412-69-26378</phone>
    <email>jennifer.baker@chp.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>Children's Hospital of Pittsburgh of UPMC</name>
      <address>
        <city>Pittsburgh</city>
        <state>Pennsylvania</state>
        <zip>15224</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Jennifer Baker, MA</last_name>
      <phone>412-692-6378</phone>
      <email>jennifer.baker@chp.edu</email>
    </contact>
    <investigator>
      <last_name>Deepa Soundara Rajan, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Ira Bergman, MD, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Andrew McCarty, CGC</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Udai Pandey, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Aleksandar Rajkovic, MD, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Dietrich Stephan, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Gerard Vockley, MD, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Alexander Yatsenko, MD, PhD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Svetlana Yatsenko, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>June 2023</verification_date>
  <study_first_submitted>December 13, 2016</study_first_submitted>
  <study_first_submitted_qc>December 13, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 16, 2016</study_first_posted>
  <last_update_submitted>June 2, 2023</last_update_submitted>
  <last_update_submitted_qc>June 2, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">June 5, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of Pittsburgh</investigator_affiliation>
    <investigator_full_name>Deepa Soundara Rajan</investigator_full_name>
    <investigator_title>Assistant Professor</investigator_title>
  </responsible_party>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>Results relevant to the participant's clinical condition will be verified in a CLIA-certified laboratory and reported to the participant.</ipd_description>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02995538
org study id: STUDY19090278
nct id: NCT02995538
lead sponsor: 
has dmc: No
The objective of this project is to develop a Neurogenetics patient database and bio
      repository - which includes clinical information regarding history, physical examination,
      laboratory testing including genetic testing (NextGen sequencing including whole exome and
      whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies -
      all ordered as clinically deemed appropriate, natural history from clinical longitudinal
      follow-up and to use de-identified information from this registry/ repository, when
      appropriate for clinical and translational research.
Patients seen in the neurogenetics clinic with a clinical phenotype or a pedigree supportive
      of a genetic disease will be considered for the study. Autosomal recessive inheritance will
      be suggested by at least two affected sibs with healthy parents who may also have other
      unaffected children. Autosomal dominant inheritance will be suggested by multiple affected
      family members in multiple generations. Lack of family history could be suggestive of
      autosomal recessive inheritance or de novo autosomal dominant inheritance.

      Informed consent will be completed prior to any research procedures or genetic testing.
      Patients seen in the neurogenetics clinic will be approached about participating in the
      Neurogenetics study during their routine clinic visit. Parents of pediatric patients seen in
      the clinic will be asked to provide their written informed consent. Following informed
      consent, deidentified patient information will be entered in a database by a study team
      member. If participation in the biorepository is also approved, then available stored
      specimens will be deidentified and located in the specific laboratories or in a collaborators
      laboratory

      In the case of a known Neurogenetics patient who has died, the Legally Authorized
      Representative (or next of kin) of a deceased patient may be approached to provide permission
      for research data and stored specimens to be included in this study. Again, their protected
      health information (including any samples that were clinically obtained from biopsies or at
      autopsy) will be secured and de-identified for their participation.

      Immediate family members will be studied (affected individual, affected and unaffected
      siblings and parents) with the goal of studying at least a family in trio (mother, father,
      affected child). In some cases, the family may have a deceased individual with banked DNA
      available. If the family is interested in including these samples, written consent will be
      obtained from the decedent's next-of-kin or the executors of the decedent' estate.

      Family history suggestive of genetic disease which is undiagnosed with the available
      diagnosis methods will be considered for the study after having an extensive genetic
      evaluation. Affected individuals beside their affected and unaffected siblings and both their
      parents will be considered for the study.

      The research subjects will be seen by a member of the study team to discuss the research
      protocol and obtain informed consent. They will also be seen in the clinic once we have the
      final results of the research study for genetic counseling and to discuss the results. If
      needed they will be seen in the clinic for other clinical reasons that are not related to the
      research.

      Methodology:

      For Goal 1: A neurogenetics clinic has been set up with 2 clinical child neurologists and a
      genetic counselor, where undiagnosed patients with a potential neurogenetic disease will be
      assessed and clinically appropriate testing will be ordered. Patients with diagnosed
      neurogenetic disorders will also be followed for longitudinal care and reassessment as
      appropriate.

      For Goal 2: Informed consent will be obtained and pretesting genetic counseling will be
      provided. Clinically appropriate testing will be ordered including blood draw, urine specimen
      collection, buccal swab collection and if needed tissue biopsy samples. DNA sample from the
      above testing that is left over after appropriate clinical testing will be used for storage
      at the biorepository and for further appropriate research testing. Next generation
      sequencing, if clinically appropriate will be ordered through available commercial labs as
      approved by the patient's insurance company. If insurance coverage is denied research testing
      will be ordered after informed consent and pretesting counseling, to be done through our
      collaborative labs.

      For Goal 3: A patient database with de-identified clinical information, laboratory analysis,
      imaging studies and genetic studies will be maintained. A biorepository of blood and other
      DNA/ tissue samples will be maintained in the appropriate clinical / collaborators
      laboratory. The patient database will facilitate and identification and recruitment of
      potential eligible subjects for the participation in patient specific translational research
      studies to help better delineate the patients condition or to help with potential therapy
      development in the future.

      Collaborators have been identified in multiple different fields through the university of
      Pittsburgh to help with offering research next generation testing, bioinformatics analysis,
      basic science researchers to help with functional analysis of potential novel genes/ variants
      of unknown significance. The vision of the initiative is to be able to take data from novel
      new genetic testing on undiagnosed patients to the bench for functional characterization -
      with the hope that this would pave the road to repurposing currently available drugs for
      personalized care of these rare patients or help development of novel treatments in the
      future.

      Experimental Approach:

      Blood draw will be ordered as clinically indicated with an extra tube been drawn for research
      purposes: Up to 20 mL of whole blood will be collected in EDTA tubes. DNA will be extracted
      per standard lab protocols. For deceased individuals we will be using banked source of DNA if
      available. Next of kin will sign proxy consent for deceased individuals. Whole Exome
      Sequencing (exome amplification and sequencing) and/or Whole Genome Sequencing will be done
      according to lab protocol and will be sent out to a commercial laboratory or a laboratory in
      consultation with one of our collaborators/consultants on this protocol. Research whole exome
      through a collaborators laboratory will be offered to patients, whose insurance providers
      will not cover for clinical testing.

      The bioinformatics analysis provided by collaborators will be used to analyze the raw data
      from NGS. Standard analysis will be used looking for variants in specific genes known to
      cause genetic disorders. Any variants on whole exome or whole genome sequencing found will
      then be compared to publicly available exomes/genomes from the dbSNP database, 1000 Genome
      Project and NHLBI (http://evs.gs.washington.edu/EVS/) to exclude common variants and will be
      compared to data available from ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) as well as
      ExAC (ExAC.broadinstitute.org). Variants pathogenic prediction using available software such
      as PolyPhen and SIFT will be used in the analysis as well. Comparing variants found in an
      affected individual to those found in each parent further reduces the number of candidate
      variants. For autosomal dominant disorders, this strategy can discover de novo coding
      variants, assuming neither parent is a non-expressing carrier of the disorder. In contrast,
      in recessive disorders each parent should carry one of the disease-causing variants
      identified in the affected children. For X- linked disorders, the mother should be carrier
      for the disease unless it has occurred de novo in the proband. Conservation score such as
      GERP score (Genomic Evolutionary Rate Profiling) will be noted as well. Alteration of a
      highly conserved residue is more likely to be functionally significant. Genes with multiple
      transcripts will require special consideration. In this situation, effect estimation will be
      limited to those from canonical transcripts, variants in candidate genes will then be
      confirmed by Sanger sequencing in a CLIA certified lab.

      Assessment of Physiologic Relevance: Based on published literature reports of similar
      experiments, we anticipate that we will identify <10 candidate genes and perhaps as few as
      one. If more than one candidate gene is identified, we will assess likely physiologic
      relevance a number of ways. First, amino acid changes will be assessed for conservation
      across evolution. Alteration of a highly conserved residue is more likely to be functionally
      significant. Next we will assess predicted tissue expression through examination of EST
      databases and "virtual northern blots". Amino acid changes predicted to significantly alter
      protein structure will be assessed further by doing functional studies.

      Time Frame and Subsequent Studies: The proposed sequencing studies can be completed
      relatively expediently once sample is obtained. Additional time will be required for
      bioinformatic analysis. Data obtained through this project will be used by the PI to prepare
      grant applications to systematically characterize the underlying molecular defects in
      patients with significant pedigree evidence of a genetic disorder, or in patients with
      recognized genetic syndromes of unknown cause. Preliminary data obtained through this project
      will also lead to additional grant applications to study the identified defect.

      The blood draw will be done on the affected individuals, healthy parents and unaffected
      siblings in the phlebotomy lab at Children's Hospital of UPMC or other UPMC facilities where
      patients are seen by the lab personnel. The blood draw should take no more than 5-10 minutes.
      Alternate arrangements may be made with individuals and their local phlebotomy lab to obtain
      the specimens and ship them to the investigators.
observational model: Other
time perspective: Other
measure: Genetic testing
time frame: Within approximately one year for each participant
description: Next generation sequencing, if clinically appropriate will be ordered through available commercial labs as approved by the patient's insurance company. If insurance coverage is denied research testing will be ordered after informed consent and pretesting counseling, to be done through our collaborative labs.
arm group label: Neurogenetic Patients
description: The Neurogenetics Clinic, which started in 2016, provides clinical care for undiagnosed patients with complex neurological disorders in which a genetic etiology is considered and for children with diagnosed rare neurogenetic disorders - provide pre test counseling, diagnostic services for the undiagnosed patients and long-term management of patients with a wide range of diagnosed genetic disorders of the nervous system.
Blood samples and tissue samples if available after completion of tests ordered on these
      patients for clinical purposes will be de-identified and stored to create a biorepository.
      DNA sample from genetic testing that is left over after appropriate clinical testing will be
      used for storage at the biorepository and for further appropriate research testing.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Deepa Soundara Rajan, MD
role: Principal Investigator
affiliation: University of Pittsburgh
last name: Jennifer Baker, MA
phone: 412-69-26378
email: jennifer.baker@chp.edu
facility: 
status: Recruiting
contact: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of Pittsburgh
investigator full name: Deepa Soundara Rajan
investigator title: Assistant Professor
sharing ipd: Yes
ipd description: Results relevant to the participant's clinical condition will be verified in a CLIA-certified laboratory and reported to the participant.