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IMPACT-Ready Study

A legfontosabb adatok

Ki végzi
Coalition for Aligning Science
Hol
Atlanta, Aurora, Boston, Chapel Hill, Cincinnati, Houston, Los Angeles, New York, Philadelphia és Seattle (Egyesült Államok)Mind a 10 helyszín megnézéseMég 2 másik országban, 2 helyszínen
Azonosító
Állapot
Toborzás még nem indult
Résztvevők
1250 fő, tervezett
Kezdés
2026. nov.
Várható befejezés
2040. nov.
A vizsgálat típusa
Megfigyeléses, 3 csoport
A regiszteradat frissítve
2026. november 12.

Ki vehet részt

Életkor
0 év – 18 év
Nem
Nők és férfiak
Egészséges önkéntesek
Nem vehetnek részt

A regiszter feltételei, szó szerint

Mind a 8 feltétel megnézéseKevesebb

Ki vehet részt

  • For Cohort 1: age 0-18 years with clinical documentation of a genetically-defined disorder associated with profound autism, including a pathogenic/likely pathogenic variant in ARID1B, GRIN2B, RNU4-2, SCN2A, or SLC6A1
  • For Cohort 2: ages 2-18 years with profound autism or likely profound autism, either without previous genetic testing or previous testing that was non-diagnostic

Ki nem vehet részt

  • Treatment with an investigational drug, biological agent, or device as part of another research study, within 30 days prior to study enrollment
  • Previous treatments involving disease-modifying therapies, such as gene therapy, antisense oligonucleotide (ASO), or a repurposed drug
  • For Cohort 1: Aged over 18 years at enrollment
  • For Cohort 2: Age <2 or >18 years at enrollment
  • For Cohort 2: Participants with an established genetic diagnosis for their autism on the basis of a pathogenic variant (or variants) identified in a non-target neurodevelopmental gene
  • Primary language other than English or Spanish

Nézd meg, megfelelhetsz-e

Magadról válaszolj. Ez nem döntés: hogy részt vehetsz-e, azt csak a vizsgálat csapata mondhatja meg.

  • 0 és 18 év között vagy?

Helyszínek itt: Egyesült Államok

Még 2 másik országban, 2 helyszínen

  • Emory University/Georgia State University/Children's Healthcare of AtlantaAtlanta, Egyesült ÁllamokContact: Ami Klin, PhD (principal investigator)No longer taking part
  • University of Colorado Anschutz Medical Campus/Children's Hospital of ColoradoAurora, Egyesült ÁllamokContact: Timothy Benke, MD, PhD (principal investigator)No longer taking part
  • Boston Children's HospitalBoston, Egyesült ÁllamokContact: Siddharth Srivastava, MD (principal investigator)No longer taking part
  • University of North Carolina at Chapel HillChapel Hill, Egyesült ÁllamokContact: Mark Shen, PhD (principal investigator)No longer taking part
  • Cincinnati Children's Hospital Medical CenterCincinnati, Egyesült ÁllamokContact: Craig Erickson, MD (principal investigator)No longer taking part
  • Baylor College of Medicine/ Texas Children's HospitalHouston, Egyesült ÁllamokContact: Jimmy Holder, MD, PhD (principal investigator)No longer taking part
  • Children's Hospital Los Angeles/University of California Los AngelesLos Angeles, Egyesült ÁllamokContact: Jonathan Santoro, MD (principal investigator)No longer taking part
  • New York State Psychiatric Institute/Weill Cornell Medicine/Columbia University Medical CenterNew York, Egyesült ÁllamokContact: Jeremy Veenstra-Vanderweele, MD (principal investigator)No longer taking part
  • Children's Hospital of Philadelphia & University of PennsylvaniaPhiladelphia, Egyesült ÁllamokContact: Eric Marsh, MD, PhD (principal investigator)No longer taking part
  • Seattle Children's Hospital; University of WashingtonSeattle, Egyesült ÁllamokContact: Sara Webb, PhD (principal investigator)No longer taking part

A vizsgálatról

Mit akar kideríteni a vizsgálat

The IMPACT-Ready Study is a multi-site, international short-term prospective natural history study to develop new outcome measures, clinical endpoints, and biomarkers for autism and related neurodevelopmental conditions. The primary objective is to systematically document over time the behavioral, medical, neurophysiological, and genetic presentation of children with profound autism and related neurodevelopmental conditions. Participants will be initially separated into two cohorts: those with a confirmed diagnosis of a monogenic disorder associated with profound autism, including ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest (Cohort 1), or those with likely profound or profound autism without a definitive genetic cause for their autism at the time of enrollment who use few or no words to communicate, with significant cognitive impairments (Cohort 2).

A teljes eredeti leírásKevesebb

All participants will complete a baseline visit, and a subset of participants will complete either 6-month or annual follow-up visits based on the results of their genetic testing and their age.

After whole genome sequencing and Fragile X testing at the baseline visit, Cohort 2 will be split into 2 groups: Cohort 2a (those with a definitive genetic cause for autism not identified) and Cohort 2b (those with the presence of pathogenic or likely pathogenic variant(s) in a neurodevelopmental gene other than one of the targeted genes of interest AND those that do not meet the criteria for profound/likely profound autism following baseline assessment).

A vizsgálat 3 csoportja

  • Cohort 1

    Children and young adults (birth to 18 years) with confirmed pathogenic or likely pathogenic variants in genes strongly linked to autism, including ARID1B, GRIN2B, RNU4-2, SCN2A, SLC6A1, or other genes of interest. A formal diagnosis of profound autism is not required to participate. This group will be followed over time.

  • Cohort 2a

    Children and young adults (2-18 years) with likely profound or profound autism without a definitive genetic cause for autism identified from whole-genome sequencing or Fragile X testing at the baseline visit. This cohort will be followed over time.

  • Cohort 2b

    Children and young adults (2-18 years) with either 1) likely profound or profound autism with the presence of a genetic variant(s) in a gene other than one of the targeted genes of interest or another gene known to cause autism or 2) do not meet the study definition for profound/likely profound autism following baseline assessment. Meaningful genetic, clinical, and biomarker data will be collected from these participants at the baseline visit, but this cohort will not be followed over time.

Kérdések a vizsgálat csapatának

  1. Milyen gyakran kell bejárnom, és egy-egy alkalom mennyi ideig tart?
  2. Megtérítik az utazási költséget?
  3. Megtarthatom a saját orvosomat?
  4. Mi történik, ha ki akarok lépni?

Contact the study team: see the registry record → Contacts and Locations

Oldal nyomtatása az orvosomnak

Adatok és források

Regiszteradat
Szerepel a ClinicalTrials.gov-on.
Hivatalos cím
Aligning Research to Impact Autism (ARIA) Innovative Medicine and Precision Approaches to Clinical Trials (IMPACT)-Ready Study
Illeszkedési kérdések
Forrás: NCT07931690: ki vehet részt
A regiszteradat frissítve
2026. november 12.