Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases

NCT02340871 | Unknown DMC

• 2 other identifiers: 0643-131ZIAAG000958-12
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

Brief Summary

In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases. The genetic basis was elucidated with geneticist colleagues both in Israel and worldwide. The diseases we have found encompass all the fields of pediatric neurology including intellectual disability, epilepsy, muscle-nerve disorders, malformations of the brain, microcephaly, macrocephaly, cerebellar ataxia, chorea. dystonia, cerebral palsy and many other symptoms and signs. We are especially interested in consanguineous families, in whom the parents are first or second degree cousins. These families often bear autosomal - recessive diseases. If the family is informative - with 2 or more affected children - then with current genetic techniques there is a good chance of finding the causative gene to this specific disease. This is not only a theoretical - academic accomplishment. In practice, after discovering the gene, the family is given genetic counseling and in their further pregnancies the geneticists will examine either by preimplantation genetic diagnosis (PGD) or amniocentesis if the embryo is affected or not. In the early stages of the pregnancy if the embryo is indeed affected by the disease caused by the gene we have found and the religious official consents, genetic counseling can offer termination of pregnancy to the couple. Needless to say, we know the immense burden of an affected child on the family, community and society. The parents are guilt-ridden, the affected child draws extensive resources from educational, health and rehabilitation authorities. We can contribute to the well-being of the family and the clan (because many times the relatives are affected). We can perform sophisticated genetic studies such as Whole Genome Sequencing and Whole Exome Sequencing.After an informative family is recruited to the study, we will explain the aims of the research. The parents and eligible patients will sign informed consent forms, according to the local Helsinki Board. Blood samples will be taken in Israel, DNA extracted in the Israeli lab and then shipped coded to the researchers in USA or Germany. If the researchers will find a new gene the family will be notified and given appropriate genetic counseling. We will continue to follow and treat the family onwards.

Conditions

Neurological Diseases

Keywords

Neurogenetics; genetic testing

Outcome Measures

Primary Outcomes (1)

• 75 patients with a neurological disease will be tested by Next Generation Sequence techniques to find a genetic basis for their disease

  The outcome (the finding of a new gene will be reported to the patient and his caregivers.

  3 years

Study Arms (1)

Genetic Neurological Diseases

The group consists of patients with a neurological disease that are tested for finding the genetic basis of their disease.The neurological signs and symptoms include ataxia, intellectual disability, seizures, movement disorders, migrational disorders, macrocephaly, microcephaly and various other signs and symptoms. The group consists of patients from 1-year-old until 90 years who are having a neurological disease as stated above or who are the parents or siblings of the affected patients. Blood specimens will be taken from them and DNA will be extracted for next generation studies like whole exome sequence or whole genome sequence. This process is called genetic testing. The current proposal will assist in diagnosing children and families with a neurological disease for genetic counseling.

Genetic: Genetic testing

Interventions

Genetic testing GENETIC

Patients suspected of harboring a genetic neurological disease will be summoned to take a blood test. DNA will be extracted from the blood and sent to the collaborating hospital labs for next generation sequencing.

Genetic Neurological Diseases

Eligibility Criteria

• Age: 1 Day - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a constellation of neurological findings that seem to be a new syndrome or disease are enrolled to the study to decipher the genetic basis of their disease with next generation techniques.

Sponsors & Collaborators

• Rabin Medical Center: lead
• Charite University, Berlin, Germany: collaborator
• National Institute on Aging (NIA): collaborator

Study Sites (1)

Scneider's Children Medical Center

Petah Tikva, 4920235, Israel

Location

Biospecimen

Retention: SAMPLES WITH DNA

Samples with DNA

MeSH Terms

Interventions

Genetic Testing

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Rachel Straussberg, M.D

  Schneider's Children Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rachel Straussberg, M.D

CONTACT

972-3-9253870; rachels2@clalit.org.il

Yoram Nevo, M.D

CONTACT

972-3-9253613; yoramne@clalit.org.il

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 6, 2015
• First Posted: January 19, 2015
• Study Start: March 1, 2015
• Primary Completion: July 1, 2018
• Study Completion: July 1, 2018
• Last Updated: January 19, 2015

Record last verified: 2014-12

Locations

IL (1)