Spinoserebellar Ataksi Tip 7'nin (SCA7) Doğal Seyri

Sade dilde özet

Bu çalışma, spinoserebellar ataksi tip 7 (spinocerebellar ataxia type 7, kalıtsal bir sinir ve göz hastalığı) hastalığının zaman içindeki doğal seyrini izlemeyi amaçlamaktadır. ATXN7 geninde 35'ten fazla CAG tekrarı ile moleküler olarak doğrulanmış, belirti gösteren 12 yaş ve üzeri bireyler katılabilmektedir. Çalışma faz uygulanmayan bir çalışma olarak yürütülmekte; şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

N/A

Durum

Devam ediyor, katılım kapalı

Sponsor

National Eye Institute (NEI)

Başlangıç

11.07.2016

Tahmini bitiş

31.12.2028

Ülkeler

United States

İlgili genler

Merkezler

• Bethesda, United States

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

* INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable.

1. Participant must be 12 years of age or older.
2. Participant must be able to understand and sign the protocol s informed consent document on their own behalf OR, in the case of a minor, have a legal guardian/parent with the ability to do the same.
3. Participant must be able to produce a recordable electroretinogram (ERG).
4. Participant must have the ability to cooperate the required testing. Participants unable to cooperate with one or more tests may be included only at the discretion of the Principal Investigator.
5. Participant must be willing and able to provide a blood sample.
6. Any female participant of childbearing potential must agree to have pregnancy testing prior to undergoing MRI.
7. Participant has molecularly-confirmed, symptomatic SCA7, as defined by CAG repeat expansion in the ATXN7 gene of greater than 35 repeats. Accrual will be biased towards those with lower numbers of abnormal repeats (above 35 repeats) as they are most likely to be able to cooperate with testing. Participants who have clinical findings consistent with SCA7 and a relative who has had molecular diagnosis, may be included in the study with subsequent confirmation of the number of repeats. Patients who have clinical findings consistent with SCA7, but no molecular diagnosis may be evaluated under an NEI screening, genetics bank, or evaluation and treatment protocol with subsequent molecular diagnosis performed within six months of their initial visit.

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present.

1. Participant is unable to cooperate with ophthalmic/neurologic testing, including inability to undergo brain MRI without sedation.
2. Participant has comorbidity, unrelated to ocular pathology, compromising the ability to view/image the retina and/or record an ERG.